日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Large-scale GWAS of strabismus identifies risk loci and provides support for a link with maternal smoking

大规模全基因组关联研究(GWAS)识别出斜视的风险基因位点,并证实了斜视与母亲吸烟之间的关联。

He, Weixiong; van der Most, Peter J; Ong, Jue-Sheng; Hwang, Liang-Dar; Wu, Yeda; Magnø, Morten S; Vehof, Jelle; Krebs, Kristi; Mauring, Laura; Õunap, Katrin; Abner, Erik; Martin, Nicholas G; Plotnikov, Denis; Jiang, Chen; Melles, Ronald B; Gharahkhani, Puya; Snieder, Harold; Palumaa, Teele; Kaljurand, Kuldar; Guggenheim, Jeremy A; Mackey, David A; Engle, Elizabeth C; Choquet, Hélène; MacGregor, Stuart

Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays

利用人类测序、斑马鱼筛选和蛋白质结合微阵列技术鉴定眼部先天性颅神经运动神经元疾病的致病基因

Jurgens, Julie A; Matos Ruiz, Paola M; King, Jessica; Foster, Emma E; Berube, Lindsay; Chan, Wai-Man; Barry, Brenda J; Jeong, Raehoon; Rothman, Elisabeth; Whitman, Mary C; MacKinnon, Sarah; Rivera-Quiles, Cristina; Pratt, Brandon M; Easterbrooks, Teresa; Mensching, Fiona M; Di Gioia, Silvio Alessandro; Pais, Lynn; England, Eleina M; de Berardinis, Teresa; Magli, Adriano; Koc, Feray; Asakawa, Kazuhide; Kawakami, Koichi; O'Donnell-Luria, Anne; Hunter, David G; Robson, Caroline D; Bulyk, Martha L; Engle, Elizabeth C

Multimodality Craniofacial Phenotyping of Congenital Facial Weakness Disorders

先天性面部无力障碍的多模态颅面表型分析

Almpani, Konstantinia; Devine, Katelin R; Liberton, Denise K; Mishra, Rashmi; Bassim, Carol; Van Ryzin, Carol; Facio, Flavia M; Webb, Bryn D; Barry, Brenda J; Engle, Elizabeth C; Wang Jabs, Ethylin; Collins, Francis S; Manoli, Irini; Lee, Janice S

Systematic phenotype and genotype characterization of Moebius syndrome

莫比乌斯综合征的系统性表型和基因型特征分析

Webb, Bryn D; Jurgens, Julie A; Narisu, Narisu; Zhang, Zhongyang; Barry, Brenda J; Van Ryzin, Carol; Bonnycastle, Lori L; Chan, Wai-Man; Yan, Tingfen; Di Gioia, Silvio Alessandro; Swift, Amy J; MacKinnon, Sarah E; Oystreck, Darren T; Rucker, Janet C; Frempong, Tamiesha; Whitman, Mary C; FitzGibbon, Edmond J; Lee, Janice S; Hao, Ke; Andrews, Caroline; Erazo, Monica; Facio, Flavia M; Shaaban, Sherin; Naidich, Thomas P; Chines, Peter S; Lehky, Tanya J; Toro, Camilo; Gropman, Andrea L; Butman, John A; Zalewski, Christopher K; Brewer, Carmen C; Thurm, Audrey; Snow, Joseph; Paul, Scott M; Brooks, Brian P; Pierpaoli, Carlo; Robson, Caroline D; Hunter, David G; Collins, Francis S; Jabs, Ethylin Wang; Engle, Elizabeth C; Manoli, Irini

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.

雄激素介导皮拉罗夫斯基-比约恩松综合征的性二态性

Anderson Kimberley Jade, Thorolfsdottir Eirny Tholl, Nodelman Ilana M, Halldorsdottir Sara Tholl, Benonisdottir Stefania, Alghamdi Malak, Almontashiri Naif, Barry Brenda J, Begemann Matthias, Britton Jacquelyn F, Burke Sarah, Cogne Benjamin, Cohen Ana S A, de Diego Boguñá Carles, Eichler Evan E, Engle Elizabeth C, Fahrner Jill A, Faivre Laurence, Fradin Mélanie, Fuhrmann Nico, Gao Christine W, Garg Gunjan, Grečmalová Dagmar, Grippa Mina, Harris Jacqueline R, Hoekzema Kendra, Hershkovitz Tova, Hubbard Sydney, Janssens Katrien, Jurgens Julie A, Kmoch Stanislav, Knopp Cordula, Koptagel Meral Aktas, Ladha Farah A, Lapunzina Pablo, Lindau Tobias, Meuwissen Marije, Minicucci Andreina, Neuhaus Emily, Nizon Mathilde, Nosková Lenka, Park Kristen, Patel Chirag, Pfundt Rolph, Prasun Pankaj, Rahner Nils, Robin Nathaniel H, Ronspies Carey, Roohi Jasmin, Rosenfeld Jill, Saenz Margarita, Saunders Carol, Stark Zornitza, Thiffault Isabelle, Thull Sarah, Velasco Danita, Velmans Clara, Verseput Jolijn, Vitobello Antonio, Wang Tianyun, Weiss Karin, Wentzensen Ingrid M, Pilarowski Genay, Eysteinsson Thor, Gillentine Madelyn, Stefánsson Kári, Helgason Agnar, Bowman Gregory D, Bjornsson Hans Tomas

A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders

一种基于细胞类型的框架,用于识别孟德尔遗传调控障碍中的非编码变异。

Lee, Arthur S; Ayers, Lauren J; Kosicki, Michael; Chan, Wai-Man; Fozo, Lydia N; Pratt, Brandon M; Collins, Thomas E; Zhao, Boxun; Rose, Matthew F; Sanchis-Juan, Alba; Fu, Jack M; Wong, Isaac; Zhao, Xuefang; Tenney, Alan P; Lee, Cassia; Laricchia, Kristen M; Barry, Brenda J; Bradford, Victoria R; Jurgens, Julie A; England, Eleina M; Lek, Monkol; MacArthur, Daniel G; Lee, Eunjung Alice; Talkowski, Michael E; Brand, Harrison; Pennacchio, Len A; Engle, Elizabeth C

Presence of Copy Number Variants Associated With Esotropia in Patients With Exotropia

外斜视患者中与内斜视相关的拷贝数变异的存在

Martinez Sanchez, Mayra; Chan, Wai-Man; MacKinnon, Sarah E; Barry, Brenda; Hunter, David G; Engle, Elizabeth C; Whitman, Mary C

Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays

利用人类测序、斑马鱼筛选和蛋白质结合微阵列技术鉴定眼部先天性颅神经运动神经元疾病的基因

Jurgens, Julie A; Matos Ruiz, Paola M; King, Jessica; Foster, Emma E; Berube, Lindsay; Chan, Wai-Man; Barry, Brenda J; Jeong, Raehoon; Rothman, Elisabeth; Whitman, Mary C; MacKinnon, Sarah; Rivera-Quiles, Cristina; Pratt, Brandon M; Easterbrooks, Teresa; Mensching, Fiona M; Di Gioia, Silvio Alessandro; Pais, Lynn; England, Eleina M; de Berardinis, Teresa; Magli, Adriano; Koc, Feray; Asakawa, Kazuhide; Kawakami, Koichi; O'Donnell-Luria, Anne; Hunter, David G; Robson, Caroline D; Bulyk, Martha L; Engle, Elizabeth C

Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness

罕见先天性面部无力疾病患者的口腔健康相关生活质量

Liberton, Denise K; Almpani, Konstantinia; Mishra, Rashmi; Bassim, Carol; Van Ryzin, Carol; On Behalf Of The Moebius Syndrome Research Consortium; Webb, Bryn D; Jabs, Ethylin Wang; Engle, Elizabeth C; Collins, Francis S; Manoli, Irini; Lee, Janice S

TUBB3 and KIF21A in neurodevelopment and disease

TUBB3 和 KIF21A 在神经发育和疾病中的作用

Puri, Dharmendra; Barry, Brenda J; Engle, Elizabeth C